ClinVar Miner

Submissions for variant NM_006998.4(SCGN):c.88G>T (p.Gly30Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004858890 SCV005498334 uncertain significance not specified 2024-11-08 criteria provided, single submitter clinical testing The c.88G>T (p.G30C) alteration is located in exon 2 (coding exon 2) of the SCGN gene. This alteration results from a G to T substitution at nucleotide position 88, causing the glycine (G) at amino acid position 30 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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